rs149989682, ABCA3

N. diseases: 10
Disease: Respiratory Distress Syndrome, Newborn ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Respiratory Distress Syndrome, Newborn
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
0.020 GeneticVariation BEFREE Term infants carrying the E292V missense mutation of the gene encoding ABCA3 are likely to develop respiratory distress syndrome, and the mutation has also been linked to interstitial lung disease in paediatric patients. 22145626 2012
Respiratory Distress Syndrome, Newborn
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
0.020 GeneticVariation BEFREE E292V was over-represented in newborns with RD</span>S suggesting that E292V or its unique haplotype impart increased genetic risk for RDS. 18317237 2008